Kit, method and device for detecting dynamic mutation of spinal cerebellar ataxia

An ataxia, spinocerebellar technology, applied in biochemical equipment and methods, microbial determination/inspection, DNA/RNA fragments, etc., can solve problems such as low detection efficiency, improve stability, avoid fluorescence quenching, The effect of reducing design cost

Pending Publication Date: 2022-04-12
SUZHOU BASECARE MEDICAL DEVICE CO LTD
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005] The current conventional dynamic mutation detection of spinocerebellar ataxia is to design primers for a single pathogenic gene of spinocerebellar ataxia for PCR amplification, and perform fragment analysis on the PCR target amplification to detect the number of CAG repeats, and the detection efficiency is low

Method used

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  • Kit, method and device for detecting dynamic mutation of spinal cerebellar ataxia
  • Kit, method and device for detecting dynamic mutation of spinal cerebellar ataxia
  • Kit, method and device for detecting dynamic mutation of spinal cerebellar ataxia

Examples

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Embodiment 1

[0098] In this example, 1 peripheral blood sample was recruited and stored in EDTA anticoagulated blood collection tubes. The detection method of the present invention was used for the screening of dynamic mutations in common spinocerebellar ataxia.

[0099] 1. Blood genomic DNA was extracted using Tiangen Whole Blood Extraction Kit, and the detection primer sequences are shown in Table 1.

[0100] Table 1

[0101]

[0102] 2. Mix multiple specific primers, universal primers, and PCR reaction reagents according to Table 2 to obtain a PCR reaction mixture, so that the final concentrations of specific primers and universal primers corresponding to AXTN3, AXTN2, and CACNA1A are 0.4uM and 0.4uM, respectively. , 0.1uM, 0.4uM, the volume of the PCR reaction mixture in each reaction tube is 25uL.

[0103] Table 2

[0104] Reagent Reaction volume (μL) Max Super-Fidelity DNA Polymerase 0.5 dNTP (10mM) 0.5 2×Phanta Max Buffer 12.5 multiple primers...

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Abstract

The invention relates to a kit, a detection method and a device for detecting dynamic mutation of spinal cerebellar ataxia, and the kit comprises a first specific primer for amplifying an AXTN3 gene, a second specific primer for amplifying an AXTN2 gene, a third specific primer for amplifying a CACNA1A gene and a universal primer, the specific primer of each gene is connected with a preset fixed fragment with the same sequence as the universal primer, and the universal primer is connected with a fluorophore. According to the kit disclosed by the invention, multiple specific primers and universal primers are creatively combined for use, so that the repeated copy number of CAG in an AXTN3 gene, an AXTN2 gene or a CACNA1A gene can be detected at the same time, and the detection efficiency of dynamic mutation of spinal cerebellar ataxia is improved.

Description

technical field [0001] The invention relates to the technical field of gene detection, in particular to a kit, method and device for detecting dynamic mutations of spinocerebellar ataxia. Background technique [0002] Dynamic mutation, also known as unstable trinucleotide repeat mutation, occurs in the coding region, 3' or 5'-UTR, promoter region, intron region of the gene, and other sequences of different lengths. The repeated copy number of small satellites and microsatellite sequences, which amplifies during meiosis or mitosis of somatic cells, causes an unstable state of genetic material. Dynamic mutation is a new type of gene mutation that causes human genetic diseases. It involves many diseases of the nervous system. Generally, the higher the number of repeated copies, the more serious the disease and the younger the age of onset. [0003] Ataxia, which represents an incoordinated clinical presentation, is also used to refer to a specific group of neurodegenerative di...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12Q1/686C12N15/11G16B20/50
Inventor 李文冒燕周莹黄玉娟
Owner SUZHOU BASECARE MEDICAL DEVICE CO LTD
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